Archivos peruanos de cardiologia y cirugia cardiovascular
Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights.
María Gabriela Matta, Prithviraj Dhonde, Edward Dababneh, Vaseekaran Gopalapillai, Clayton Sciberras, Kevin Ng, Nasser Mohamed Essack
Published: 202510.47487/apcyccv.v6i3.496
Abstract
Open AccessWe present the case of a 41-year-old woman with left atrial isomerism, severe sinus node dysfunction, and left ventricular hypertrabeculation, who required implantation of a dual-chamber implantable cardioverter-defibrillator with left bundle branch area pacing. Her family history revealed multiple cases of heterotaxy and conduction disorders. Genetic testing identified a heterozygous interstitial duplication on chromosome 17q23.2 involving the MED13 gene, whose clinical significance has not yet been determined.